Unexpected finding of an intact distal vagina in an infant with mixed gonadal dysgenesis
| Autor: | Rudy Alvarez, Erica A. Eugster, Martin N. Kaefer, Susanne M. Cabrera, Todd D. Nebesio |
|---|---|
| Rok vydání: | 2011 |
| Předmět: |
Male
endocrine system medicine.medical_specialty medicine.drug_class Endocrinology Diabetes and Metabolism Disorders of Sex Development Urogenital System Chromosome Disorder Genitalia Male urologic and male genital diseases Article Müllerian mimicry Mesonephric duct Endocrinology Internal medicine Humans Medicine Disorders of sex development urogenital system business.industry Genitourinary system Infant medicine.disease Androgen Virilism medicine.anatomical_structure Vagina Pediatrics Perinatology and Child Health Gonadal Dysgenesis Mixed Female Mixed gonadal dysgenesis business |
| Zdroj: | Journal of Pediatric Endocrinology and Metabolism. 24 |
| ISSN: | 2191-0251 0334-018X |
| DOI: | 10.1515/jpem.2011.336 |
| Popis: | Mixed gonadal dysgenesis (MGD) is a form of sex chromosome disorder of sex development with large phenotypic variability. Patients with MGD typically have asymmetric and ambiguous genitalia with a combination of Müllerian and Wolffian duct derivatives. Prenatal androgen exposure results in variable degrees of phallic enlargement and a urogenital sinus. Here, we report an infant with ambiguous genitalia due to MGD. Despite marked evidence of prenatal androgen exposure, there was a completely intact distal vagina. |
| Databáze: | OpenAIRE |
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